NM_207346.3(TSEN54):c.1122G>C (p.Arg374=)
|
rs6501820
|
0.89534
|
NM_001077446.4(TSEN34):c.795= (p.Pro265=)
|
rs7595
|
0.80164
|
NM_001077446.4(TSEN34):c.*497=
|
rs36621
|
0.80151
|
NM_207346.3(TSEN54):c.1310C>T (p.Ala437Val)
|
rs8064529
|
0.63819
|
NM_006416.5(SLC35A1):c.*302A>G
|
rs1051131
|
0.61356
|
NM_006416.5(SLC35A1):c.*648T>G
|
rs1051148
|
0.61316
|
NM_207346.3(TSEN54):c.12G>T (p.Glu4Asp)
|
rs7216673
|
0.60248
|
NM_207346.3(TSEN54):c.1041G>C (p.Lys347Asn)
|
rs9911502
|
0.58492
|
NM_025265.4(TSEN2):c.-209G>T
|
rs709161
|
0.56522
|
NM_025265.4(TSEN2):c.*292G>T
|
rs299643
|
0.50169
|
NM_207346.3(TSEN54):c.114T>G (p.His38Gln)
|
rs8079373
|
0.19277
|
NM_207346.3(TSEN54):c.285+3G>A
|
rs8074291
|
0.19227
|
NM_207346.3(TSEN54):c.333C>G (p.Arg111=)
|
rs6501818
|
0.19222
|
NM_020320.5(RARS2):c.1704A>G (p.Lys568=)
|
rs8802
|
0.12189
|
NM_006416.5(SLC35A1):c.887-14T>C
|
rs56136150
|
0.10768
|
NM_207346.3(TSEN54):c.409A>C (p.Ile137Leu)
|
rs11559205
|
0.09934
|
NM_207346.3(TSEN54):c.1166A>C (p.Gln389Pro)
|
rs77247739
|
0.09564
|
NM_025265.4(TSEN2):c.-391G>A
|
rs3806662
|
0.09194
|
NM_025265.4(TSEN2):c.377G>A (p.Arg126His)
|
rs33955793
|
0.07115
|
NM_207346.3(TSEN54):c.3_8dup (p.2_3EP[4])
|
rs398124622
|
0.06994
|
NM_025265.4(TSEN2):c.162G>A (p.Ala54=)
|
rs78685815
|
0.06643
|
NM_207346.3(TSEN54):c.1573G>C (p.Gly525Arg)
|
rs11870627
|
0.05898
|
NM_207346.3(TSEN54):c.1447C>G (p.Pro483Ala)
|
rs62088470
|
0.04801
|
NM_207346.3(TSEN54):c.568G>A (p.Val190Met)
|
rs79508780
|
0.04141
|
NM_024075.4(TSEN34):c.*1177G>T
|
rs78711269
|
0.03779
|
NM_006416.5(SLC35A1):c.*147C>T
|
rs55960393
|
0.03465
|
NM_001077446.4(TSEN34):c.*928A>G
|
rs144441443
|
0.02975
|
NM_001077446.4(TSEN34):c.*1128G>T
|
rs79447697
|
0.02881
|
NM_207346.2(TSEN54):c.*331T>A
|
rs150621720
|
0.02560
|
NM_001077446.4(TSEN34):c.*29G>A
|
rs2289145
|
0.02347
|
NM_001077446.4(TSEN34):c.688C>A (p.Arg230=)
|
rs11879943
|
0.02345
|
NM_025265.4(TSEN2):c.639T>C (p.Asp213=)
|
rs3796329
|
0.02309
|
NM_025265.4(TSEN2):c.327G>A (p.Glu109=)
|
rs77899976
|
0.02296
|
NM_024075.4(TSEN34):c.*1176A>T
|
rs78793520
|
0.02245
|
NM_025265.4(TSEN2):c.963G>A (p.Glu321=)
|
rs17036879
|
0.01671
|
NM_207346.3(TSEN54):c.624-9G>A
|
rs138719855
|
0.01485
|
NM_006416.5(SLC35A1):c.*240G>T
|
rs9450722
|
0.01462
|
NM_025265.4(TSEN2):c.1350G>A (p.Leu450=)
|
rs116627250
|
0.01389
|
NM_207346.3(TSEN54):c.1468C>T (p.Arg490Trp)
|
rs144662042
|
0.01362
|
NM_001077446.4(TSEN34):c.*688T>A
|
rs115025822
|
0.01302
|
NM_025265.4(TSEN2):c.-220G>A
|
rs182837891
|
0.01211
|
NM_025265.4(TSEN2):c.-199G>T
|
rs41293381
|
0.01068
|
NM_016955.4(SEPSECS):c.*371_*372del
|
rs143987218
|
0.01024
|
NM_207346.3(TSEN54):c.1328C>G (p.Ser443Cys)
|
rs150169668
|
0.01002
|
NM_001077446.4(TSEN34):c.*815G>A
|
rs36620
|
0.00944
|
NM_025265.4(TSEN2):c.108A>G (p.Glu36=)
|
rs77258715
|
0.00898
|
NM_001077446.4(TSEN34):c.*175T>C
|
rs77548142
|
0.00549
|
NM_024075.5(TSEN34):c.-5+15G>A
|
rs141003293
|
0.00497
|
NM_001077446.4(TSEN34):c.334C>G (p.Leu112Val)
|
rs17849378
|
0.00493
|
NM_001077446.4(TSEN34):c.*109A>G
|
rs181231588
|
0.00482
|
NM_003384.2(VRK1):c.-110C>T
|
rs77630815
|
0.00455
|
NM_001077446.4(TSEN34):c.*1053G>A
|
rs182704571
|
0.00428
|
NM_025265.4(TSEN2):c.*78G>A
|
rs735640
|
0.00427
|
NM_001077446.4(TSEN34):c.39G>A (p.Val13=)
|
rs184898622
|
0.00426
|
NM_024075.5(TSEN34):c.-95A>G
|
rs115290127
|
0.00390
|
NM_025265.4(TSEN2):c.272-4C>G
|
rs41293385
|
0.00369
|
NM_025265.4(TSEN2):c.-20G>A
|
rs9871742
|
0.00345
|
NM_207346.3(TSEN54):c.*169T>C
|
rs111972085
|
0.00317
|
NM_025265.4(TSEN2):c.1389C>T (p.Asp463=)
|
rs75288720
|
0.00287
|
NM_001077446.4(TSEN34):c.*865A>G
|
rs187570218
|
0.00272
|
NM_025265.4(TSEN2):c.-173C>T
|
rs76012118
|
0.00250
|
NM_207346.3(TSEN54):c.1167G>C (p.Gln389His)
|
rs369805010
|
0.00193
|
NM_001077446.4(TSEN34):c.*993C>T
|
rs535031564
|
0.00192
|
NM_025265.4(TSEN2):c.*419A>G
|
rs139545175
|
0.00176
|
NM_207346.3(TSEN54):c.*282T>A
|
rs191410134
|
0.00158
|
NM_001077446.4(TSEN34):c.*496T>A
|
rs190495812
|
0.00130
|
NM_207346.3(TSEN54):c.83C>T (p.Ser28Leu)
|
rs201089582
|
0.00116
|
NM_025265.4(TSEN2):c.405G>A (p.Pro135=)
|
rs140728375
|
0.00090
|
NM_025265.4(TSEN2):c.-353G>T
|
rs1023680154
|
0.00086
|
NM_207346.3(TSEN54):c.285+12G>A
|
rs373044979
|
0.00080
|
NM_207346.3(TSEN54):c.1368C>T (p.Asp456=)
|
rs138560086
|
0.00075
|
NM_025265.4(TSEN2):c.1248+15G>C
|
rs200663602
|
0.00073
|
NM_207346.3(TSEN54):c.692C>T (p.Pro231Leu)
|
rs141249409
|
0.00070
|
NM_025265.4(TSEN2):c.1332A>G (p.Lys444=)
|
rs113981920
|
0.00066
|
NM_025265.4(TSEN2):c.990A>G (p.Lys330=)
|
rs113260160
|
0.00063
|
NM_001077446.4(TSEN34):c.*1046T>C
|
rs553497009
|
0.00062
|
NM_207346.3(TSEN54):c.767G>A (p.Gly256Asp)
|
rs200683263
|
0.00061
|
NM_025265.4(TSEN2):c.522C>T (p.Asn174=)
|
rs141580750
|
0.00059
|
NM_207346.3(TSEN54):c.325C>G (p.Arg109Gly)
|
rs148146916
|
0.00053
|
NM_001077446.4(TSEN34):c.392C>T (p.Ser131Leu)
|
rs202245444
|
0.00050
|
NM_207346.3(TSEN54):c.1114G>A (p.Val372Met)
|
rs200434678
|
0.00045
|
NM_025265.4(TSEN2):c.1013C>G (p.Thr338Arg)
|
rs145142315
|
0.00038
|
NM_025265.4(TSEN2):c.322G>T (p.Val108Phe)
|
rs202097247
|
0.00037
|
NM_001077446.4(TSEN34):c.230G>C (p.Arg77Pro)
|
rs200004897
|
0.00034
|
NM_207346.3(TSEN54):c.984T>C (p.Ala328=)
|
rs776960594
|
0.00028
|
NM_025265.4(TSEN2):c.*475C>T
|
rs145812749
|
0.00027
|
NM_025265.4(TSEN2):c.309G>A (p.Arg103=)
|
rs148549222
|
0.00026
|
NM_001077446.4(TSEN34):c.314G>A (p.Arg105Gln)
|
rs138586360
|
0.00024
|
NM_025265.4(TSEN2):c.-201C>T
|
rs776511215
|
0.00024
|
NM_001077446.4(TSEN34):c.*692A>G
|
rs886054627
|
0.00021
|
NM_025265.4(TSEN2):c.*430G>A
|
rs145164317
|
0.00020
|
NM_207346.3(TSEN54):c.1079C>T (p.Ala360Val)
|
rs368377822
|
0.00019
|
NM_001077446.4(TSEN34):c.*948C>T
|
rs886054629
|
0.00017
|
NM_025265.4(TSEN2):c.*458C>T
|
rs559783669
|
0.00016
|
NM_025265.4(TSEN2):c.872A>G (p.Tyr291Cys)
|
rs140979604
|
0.00016
|
NM_003384.2(VRK1):c.-81C>T
|
rs886050948
|
0.00014
|
NM_025265.4(TSEN2):c.1029C>T (p.Tyr343=)
|
rs371073764
|
0.00014
|
NM_025265.4(TSEN2):c.-355C>T
|
rs886057905
|
0.00010
|
NM_025265.4(TSEN2):c.748G>A (p.Asp250Asn)
|
rs757172883
|
0.00009
|
NM_207346.3(TSEN54):c.862G>A (p.Val288Ile)
|
rs199682817
|
0.00009
|
NM_025265.4(TSEN2):c.*56A>T
|
rs749423706
|
0.00008
|
NM_025265.4(TSEN2):c.635A>C (p.Glu212Ala)
|
rs201734805
|
0.00008
|
NM_207346.3(TSEN54):c.1452C>T (p.Asp484=)
|
rs767631739
|
0.00008
|
NM_001077446.4(TSEN34):c.*458C>T
|
rs905318412
|
0.00006
|
NM_025265.4(TSEN2):c.*211C>T
|
rs886057911
|
0.00006
|
NM_025265.4(TSEN2):c.1104A>G (p.Leu368=)
|
rs761076607
|
0.00006
|
NM_025265.4(TSEN2):c.870A>G (p.Pro290=)
|
rs542708828
|
0.00006
|
NM_001077446.4(TSEN34):c.5T>C (p.Leu2Pro)
|
rs778510316
|
0.00005
|
NM_025265.4(TSEN2):c.389A>C (p.Lys130Thr)
|
rs142211875
|
0.00005
|
NM_207346.3(TSEN54):c.1030C>T (p.Arg344Cys)
|
rs759944703
|
0.00005
|
NM_207346.3(TSEN54):c.1430+5G>A
|
rs367823640
|
0.00005
|
NM_025265.4(TSEN2):c.-222G>A
|
rs533687592
|
0.00004
|
NM_025265.4(TSEN2):c.1048C>T (p.Arg350Ter)
|
rs201467485
|
0.00004
|
NM_025265.4(TSEN2):c.768G>A (p.Glu256=)
|
rs200009549
|
0.00004
|
NM_207346.3(TSEN54):c.1430+4C>T
|
rs202109896
|
0.00004
|
NM_001077446.4(TSEN34):c.*358T>C
|
rs762136353
|
0.00003
|
NM_001077446.4(TSEN34):c.675A>G (p.Arg225=)
|
rs375366303
|
0.00003
|
NM_025265.4(TSEN2):c.1249-12A>G
|
rs370637450
|
0.00003
|
NM_207346.3(TSEN54):c.*167T>C
|
rs886053401
|
0.00003
|
NM_207346.3(TSEN54):c.1415G>A (p.Arg472Gln)
|
rs151332020
|
0.00003
|
NM_207346.3(TSEN54):c.176G>A (p.Arg59Gln)
|
rs886043563
|
0.00003
|
NM_001077446.4(TSEN34):c.*999A>G
|
rs1437168457
|
0.00002
|
NM_001077446.4(TSEN34):c.262C>T (p.Arg88Cys)
|
rs758855323
|
0.00002
|
NM_001077446.4(TSEN34):c.274G>C (p.Glu92Gln)
|
rs200274242
|
0.00002
|
NM_001077446.4(TSEN34):c.591C>G (p.Ala197=)
|
rs781446570
|
0.00002
|
NM_025265.4(TSEN2):c.-160C>G
|
rs372043523
|
0.00002
|
NM_025265.4(TSEN2):c.-224G>C
|
rs1175377888
|
0.00002
|
NM_025265.4(TSEN2):c.491C>T (p.Thr164Ile)
|
rs1178412243
|
0.00002
|
NM_025265.4(TSEN2):c.845A>G (p.Asn282Ser)
|
rs202056552
|
0.00002
|
NM_025265.4(TSEN2):c.961-14G>A
|
rs748777382
|
0.00002
|
NM_207346.3(TSEN54):c.1205G>T (p.Gly402Val)
|
rs1383991855
|
0.00002
|
NM_207346.3(TSEN54):c.1385G>A (p.Arg462Gln)
|
rs778218563
|
0.00002
|
NM_207346.3(TSEN54):c.867G>A (p.Thr289=)
|
rs751120868
|
0.00002
|
NM_001077446.4(TSEN34):c.*758T>G
|
rs989200379
|
0.00001
|
NM_001077446.4(TSEN34):c.*836C>T
|
rs1476835074
|
0.00001
|
NM_001077446.4(TSEN34):c.*94C>T
|
rs886054626
|
0.00001
|
NM_001077446.4(TSEN34):c.153G>A (p.Leu51=)
|
rs1276930053
|
0.00001
|
NM_001077446.4(TSEN34):c.397G>C (p.Ala133Pro)
|
rs767815202
|
0.00001
|
NM_001077446.4(TSEN34):c.765C>T (p.His255=)
|
rs148706818
|
0.00001
|
NM_001077446.4(TSEN34):c.786C>T (p.Cys262=)
|
rs749845322
|
0.00001
|
NM_025265.4(TSEN2):c.*95T>C
|
rs528422124
|
0.00001
|
NM_025265.4(TSEN2):c.-105A>G
|
rs770631241
|
0.00001
|
NM_025265.4(TSEN2):c.-13C>T
|
rs780952847
|
0.00001
|
NM_025265.4(TSEN2):c.-18+10G>A
|
rs886057908
|
0.00001
|
NM_025265.4(TSEN2):c.105A>G (p.Lys35=)
|
rs777378178
|
0.00001
|
NM_025265.4(TSEN2):c.119T>G (p.Phe40Cys)
|
rs138662263
|
0.00001
|
NM_025265.4(TSEN2):c.1233C>T (p.Ser411=)
|
rs747491166
|
0.00001
|
NM_025265.4(TSEN2):c.657T>C (p.His219=)
|
rs754200115
|
0.00001
|
NM_025265.4(TSEN2):c.700C>T (p.Leu234Phe)
|
rs760813133
|
0.00001
|
NM_207346.3(TSEN54):c.1067A>G (p.His356Arg)
|
rs1221250692
|
0.00001
|
NM_207346.3(TSEN54):c.1070C>T (p.Ala357Val)
|
rs760089379
|
0.00001
|
NM_207346.3(TSEN54):c.1486G>A (p.Gly496Arg)
|
rs886053400
|
0.00001
|
NM_207346.3(TSEN54):c.367T>A (p.Cys123Ser)
|
rs1484028244
|
0.00001
|
NM_207346.3(TSEN54):c.369+5G>A
|
rs756343304
|
0.00001
|
NM_207346.3(TSEN54):c.745A>C (p.Ser249Arg)
|
rs761784110
|
0.00001
|
NM_207346.3(TSEN54):c.821G>A (p.Gly274Glu)
|
rs1460815000
|
0.00001
|
NM_001077446.4(TSEN34):c.*1078del
|
rs886054630
|
|
NM_001077446.4(TSEN34):c.*1163C>G
|
rs115093373
|
|
NM_001077446.4(TSEN34):c.*199A>T
|
rs527437622
|
|
NM_001077446.4(TSEN34):c.*245A>C
|
rs4042
|
|
NM_001077446.4(TSEN34):c.*276G>C
|
rs1281858067
|
|
NM_001077446.4(TSEN34):c.*384G>C
|
rs1052800195
|
|
NM_001077446.4(TSEN34):c.*385=
|
rs1156850349
|
|
NM_001077446.4(TSEN34):c.*385A>C
|
rs36622
|
|
NM_001077446.4(TSEN34):c.*385A>T
|
rs36622
|
|
NM_001077446.4(TSEN34):c.*842T>G
|
rs569859820
|
|
NM_001077446.4(TSEN34):c.*849AT[3]
|
rs746578183
|
|
NM_001077446.4(TSEN34):c.*863G>A
|
rs920714892
|
|
NM_001077446.4(TSEN34):c.183C>A (p.Ala61=)
|
rs886054624
|
|
NM_001077446.4(TSEN34):c.289C>T (p.Gln97Ter)
|
rs1568849876
|
|
NM_001077446.4(TSEN34):c.294C>T (p.Ser98=)
|
rs770587931
|
|
NM_001077446.4(TSEN34):c.687G>A (p.Glu229=)
|
rs886054625
|
|
NM_001077446.4(TSEN34):c.73C>T (p.Arg25Cys)
|
rs1307925755
|
|
NM_001077446.4(TSEN34):c.95C>A (p.Thr32Lys)
|
rs770199288
|
|
NM_001077446.4(TSEN34):c.96G>T (p.Thr32=)
|
rs931778585
|
|
NM_003384.3(VRK1):c.261C>T (p.Tyr87=)
|
rs748309797
|
|
NM_006416.5(SLC35A1):c.*294dup
|
rs11432150
|
|
NM_006416.5(SLC35A1):c.*521_*522insAATG
|
rs10681831
|
|
NM_016042.4(EXOSC3):c.*571TAT[1]
|
rs34753153
|
|
NM_016955.3(SEPSECS):c.-143_-139TTTTG[4]
|
rs779134137
|
|
NM_016955.3(SEPSECS):c.-147_-146dup
|
rs536637971
|
|
NM_016955.3(SEPSECS):c.-147dup
|
rs536637971
|
|
NM_016955.3(SEPSECS):c.-160C>T
|
rs111926440
|
|
NM_016955.4(SEPSECS):c.*236_*237insTTT
|
rs140928773
|
|
NM_016955.4(SEPSECS):c.*254_*257del
|
rs577008196
|
|
NM_016955.4(SEPSECS):c.*3402AAT[1]
|
rs886059339
|
|
NM_016955.4(SEPSECS):c.269+9_269+12del
|
rs748765764
|
|
NM_020320.5(RARS2):c.1439G>A (p.Gly480Glu)
|
rs760844669
|
|
NM_024075.4(TSEN34):c.-175C>A
|
rs886054622
|
|
NM_024075.5(TSEN34):c.-41G>A
|
rs886054623
|
|
NM_025265.4(TSEN2):c.*106A>G
|
rs1276816567
|
|
NM_025265.4(TSEN2):c.*198A>G
|
rs551722010
|
|
NM_025265.4(TSEN2):c.*19C>T
|
rs1274814643
|
|
NM_025265.4(TSEN2):c.*448C>G
|
rs886057912
|
|
NM_025265.4(TSEN2):c.-130T>C
|
rs886057907
|
|
NM_025265.4(TSEN2):c.-200C>T
|
rs540294443
|
|
NM_025265.4(TSEN2):c.-219C>G
|
rs886057906
|
|
NM_025265.4(TSEN2):c.-293A>G
|
rs1486288895
|
|
NM_025265.4(TSEN2):c.-297C>T
|
rs190941859
|
|
NM_025265.4(TSEN2):c.-373C>T
|
rs550947754
|
|
NM_025265.4(TSEN2):c.-374G>A
|
rs28657473
|
|
NM_025265.4(TSEN2):c.-382A>C
|
rs886057904
|
|
NM_025265.4(TSEN2):c.-91A>C
|
rs866706372
|
|
NM_025265.4(TSEN2):c.122G>A (p.Arg41His)
|
rs12495784
|
|
NM_025265.4(TSEN2):c.1255A>C (p.Met419Leu)
|
rs370820344
|
|
NM_025265.4(TSEN2):c.560G>C (p.Arg187Pro)
|
rs146117200
|
|
NM_025265.4(TSEN2):c.604A>T (p.Thr202Ser)
|
rs886057909
|
|
NM_025265.4(TSEN2):c.680C>T (p.Ala227Val)
|
rs886057910
|
|
NM_025265.4(TSEN2):c.704A>G (p.His235Arg)
|
rs769122669
|
|
NM_207346.3(TSEN54):c.*224G>T
|
rs2053484029
|
|
NM_207346.3(TSEN54):c.1043T>A (p.Leu348His)
|
rs886053397
|
|
NM_207346.3(TSEN54):c.1111G>A (p.Glu371Lys)
|
rs398124621
|
|
NM_207346.3(TSEN54):c.1120C>G (p.Arg374Gly)
|
rs201351319
|
|
NM_207346.3(TSEN54):c.1163G>C (p.Arg388Pro)
|
rs796181199
|
|
NM_207346.3(TSEN54):c.1209G>C (p.Gln403His)
|
rs886053398
|
|
NM_207346.3(TSEN54):c.1252+6C>G
|
rs977124000
|
|
NM_207346.3(TSEN54):c.1381T>C (p.Phe461Leu)
|
rs767683456
|
|
NM_207346.3(TSEN54):c.13C>T (p.Pro5Ser)
|
rs886053394
|
|
NM_207346.3(TSEN54):c.1418T>A (p.Met473Lys)
|
rs2053460545
|
|
NM_207346.3(TSEN54):c.1530C>A (p.Ile510=)
|
rs754461779
|
|
NM_207346.3(TSEN54):c.16G>C (p.Glu6Gln)
|
rs1377971286
|
|
NM_207346.3(TSEN54):c.285+9C>G
|
rs200318170
|
|
NM_207346.3(TSEN54):c.286-8C>T
|
rs886053395
|
|
NM_207346.3(TSEN54):c.521+9C>G
|
rs753458014
|
|
NM_207346.3(TSEN54):c.536C>G (p.Pro179Arg)
|
rs376310114
|
|
NM_207346.3(TSEN54):c.663G>A (p.Leu221=)
|
rs886053396
|
|
NM_207346.3(TSEN54):c.894C>G (p.Phe298Leu)
|
rs564262300
|
|